Hyperinsulinism
Gene: GCK
Well reported gene-disease association. Inactivating loss of function variants are associated with MODY type II (MIM#125851) and diabetes mellitus, permanent neonatal 1 (MIM#606176). Activating gain of function variants have been associated with hyperinsulinemic hypoglycemia, and usually cluster in a discrete region of the protein termed the allosteric activator site.Created: 19 May 2022, 5:59 a.m. | Last Modified: 19 May 2022, 5:59 a.m.
Panel Version: 0.29
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Publications
Gene: gck has been classified as Green List (High Evidence).
Phenotypes for gene: GCK were changed from to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Publications for gene: GCK were set to
Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: GCK was added gene: GCK was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GCK was set to Unknown